Q96RP8
PR
Gene name |
KCNA7 |
Protein name |
Potassium voltage-gated channel subfamily A member 7 |
Names |
Voltage-gated potassium channel subunit Kv1.7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3743 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96RP8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96RP8-F1 | Predicted | AlphaFoldDB |
434 variants for Q96RP8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs979401256 CA309456420 |
4 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1309928607 CA406814857 |
6 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1277371687 CA406814838 |
7 | P>L | No |
ClinGen gnomAD |
|
|
rs763425366 CA9566047 |
8 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202470987 CA406814796 |
11 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1190652643 CA406814774 |
12 | C>W | No |
ClinGen TOPMed |
|
|
rs773707636 CA9566046 |
13 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9566044 rs761944863 |
16 | V>G | No |
ClinGen ExAC |
|
|
rs546447483 CA309456375 |
16 | V>M | No |
ClinGen 1000Genomes |
|
|
rs1157459672 CA406814733 |
17 | L>F | No |
ClinGen TOPMed |
|
|
rs1157459672 CA406814730 |
17 | L>I | No |
ClinGen TOPMed |
|
|
rs1257324776 CA406814726 |
17 | L>P | No |
ClinGen gnomAD |
|
|
CA309456368 rs988188254 |
18 | N>T | No |
ClinGen TOPMed |
|
|
CA406814708 rs1433227576 |
19 | V>M | No |
ClinGen gnomAD |
|
|
rs1333518132 CA406814696 |
20 | A>V | No |
ClinGen gnomAD |
|
|
rs1454458635 CA406814689 |
22 | L>M | No |
ClinGen TOPMed |
|
|
CA406814682 rs1435451538 |
23 | R>C | No |
ClinGen gnomAD |
|
|
CA406814683 rs1435451538 |
23 | R>S | No |
ClinGen gnomAD |
|
|
rs747231345 CA9566041 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406814664 rs1373677784 |
25 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 26 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9566040 rs774074884 |
27 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390756257 CA406814656 |
27 | R>Q | No |
ClinGen TOPMed |
|
|
CA406814657 rs774074884 |
27 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770702082 CA9566039 |
28 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318522811 CA406814645 |
29 | R>H | No |
ClinGen TOPMed |
|
|
rs1482037141 CA406814639 |
30 | T>M | No |
ClinGen gnomAD |
|
|
rs755648332 CA9566036 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755648332 CA9566037 |
32 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9566035 rs528367533 |
34 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1486377393 CA406814590 |
35 | P>L | No |
ClinGen gnomAD |
|
|
CA406814593 rs1279209485 |
35 | P>S | No |
ClinGen TOPMed |
|
|
CA406814589 rs1272356428 |
36 | D>N | No |
ClinGen gnomAD |
|
|
CA9566034 rs780652724 |
37 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs754689330 CA9566033 |
38 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9566031 rs766662909 |
40 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9566032 rs766662909 |
40 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1377205865 CA406814551 |
40 | G>R | No |
ClinGen gnomAD |
|
|
CA406814540 rs758719079 |
41 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750924196 CA9566029 |
41 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9566030 rs758719079 |
41 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9566028 rs765790609 |
42 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406814528 rs765790609 |
42 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9566027 rs762386271 |
43 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1422464134 CA406814501 |
44 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 44 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9566026 rs776889232 |
46 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1188272457 CA406814475 |
47 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760821999 CA9566024 |
49 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760821999 CA9566025 |
49 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406814428 rs1203832906 |
50 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1249061772 CA406814437 |
50 | D>N | No |
ClinGen gnomAD |
|
|
CA406814434 rs1249061772 |
50 | D>Y | No |
ClinGen gnomAD |
|
|
CA406814422 rs1480882006 |
51 | D>N | No |
ClinGen gnomAD |
|
|
rs1253042775 CA406814402 |
52 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1253042775 CA406814404 |
52 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9566023 rs775715294 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292874627 CA406814379 |
54 | R>C | No |
ClinGen gnomAD |
|
|
CA406814375 rs1234206060 |
54 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9566019 rs772973767 |
56 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9566020 rs749065402 |
56 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165187490 CA406814305 |
59 | D>A | No |
ClinGen gnomAD |
|
|
CA406814307 rs1349701255 |
59 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780734696 CA9566016 |
60 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409320605 CA406814292 |
60 | R>P | No |
ClinGen gnomAD |
|
|
rs1409320605 CA406814290 |
60 | R>Q | No |
ClinGen gnomAD |
|
|
rs780734696 CA406814294 |
60 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600258401 CA406814284 |
61 | H>N | No |
ClinGen Ensembl |
|
|
rs1306446361 CA406814249 |
64 | S>G | No |
ClinGen TOPMed |
|
|
rs746642020 CA9566014 |
64 | S>N | No |
ClinGen ExAC |
|
|
CA406814220 rs1202999698 |
66 | D>N | No |
ClinGen TOPMed |
|
|
rs1252552524 CA406814196 |
67 | A>V | No |
ClinGen gnomAD |
|
|
rs1189444153 CA406814190 |
68 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406814153 rs1273645624 |
71 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779716853 CA9566013 |
72 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1266504544 CA406814119 |
73 | Q>R | No |
ClinGen gnomAD |
|
|
rs1238352779 CA406814111 |
74 | S>A | No |
ClinGen gnomAD |
|
|
CA406814103 rs1455704533 |
74 | S>F | No |
ClinGen TOPMed |
|
|
rs750846307 CA9566010 |
75 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757899215 CA9566008 |
77 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754340893 CA9566007 |
78 | L>R | No |
ClinGen ExAC TOPMed |
|
|
CA406814053 rs1460305684 |
80 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1356264504 CA406814054 |
80 | R>W | No |
ClinGen TOPMed |
|
|
CA406814038 rs1453816521 |
81 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406814040 rs1453816521 |
81 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767833140 CA9566003 CA406814014 |
83 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759647784 CA9566002 |
84 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406814009 rs759647784 |
84 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253551350 CA406814002 |
85 | P>T | No |
ClinGen gnomAD |
|
|
CA9566001 rs773061610 |
86 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA309456100 rs895594507 |
89 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA309456067 rs962434876 |
93 | V>G | No |
ClinGen Ensembl |
|
|
rs369748609 CA9565999 |
93 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262624370 CA406813896 |
94 | A>V | No |
ClinGen gnomAD |
|
|
rs1568412566 CA406813869 |
97 | G>R | No |
ClinGen Ensembl |
|
|
rs776480400 CA9565998 |
98 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 99 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9565996 rs746477741 |
101 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA9565997 rs768078948 |
101 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA309456035 rs946680129 |
103 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA406813802 rs946680129 |
103 | L>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771795420 CA9565994 |
104 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA9565993 rs745501976 |
105 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1395558144 CA406813774 |
107 | R>S | No |
ClinGen gnomAD |
|
|
CA406813755 rs1241791307 |
108 | E>G | No |
ClinGen TOPMed |
|
|
CA9565992 rs779435830 |
110 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406813702 rs1389395078 |
112 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406813703 rs1389395078 |
112 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9565989 rs756560163 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565988 rs756560163 |
113 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565987 rs752866112 |
114 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9565986 rs573125069 |
115 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406813672 rs573125069 |
115 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751719528 CA9565984 |
118 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1281630832 CA406813626 |
119 | P>S | No |
ClinGen gnomAD |
|
|
CA406813612 rs1269919265 |
120 | L>R | No |
ClinGen gnomAD |
|
|
CA406813618 rs1340467171 |
120 | L>V | No |
ClinGen gnomAD |
|
|
CA406813610 rs1228618061 |
121 | P>S | No |
ClinGen gnomAD |
|
|
CA9565983 rs765019061 |
122 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406813598 rs1413602210 |
122 | R>H | No |
ClinGen gnomAD |
|
|
rs1375563560 CA406813588 |
123 | R>C | No |
ClinGen gnomAD |
|
|
CA309455994 rs1056052146 |
123 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1193675052 CA406813564 |
125 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs937629142 CA309455991 |
126 | A>P | No |
ClinGen gnomAD |
|
|
rs937629142 CA406813561 |
126 | A>T | No |
ClinGen gnomAD |
|
|
rs1292017560 CA406813554 |
127 | R>C | No |
ClinGen TOPMed |
|
|
CA406813552 rs1337375952 |
127 | R>H | No |
ClinGen TOPMed |
|
|
CA9565981 rs776568811 |
128 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs200705349 CA406813523 |
132 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200705349 CA9565980 |
132 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920250701 CA309455974 |
133 | F>V | No |
ClinGen Ensembl |
|
|
rs745521579 CA9565976 |
137 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs778668555 CA9565975 |
137 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1315281473 CA406813451 |
138 | S>N | No |
ClinGen TOPMed |
|
|
rs1341965834 CA406813439 |
140 | Q>E | No |
ClinGen gnomAD |
|
|
CA406813437 rs1263283396 |
140 | Q>P | No |
ClinGen gnomAD |
|
|
CA406813427 rs1232371843 |
141 | A>D | No |
ClinGen gnomAD |
|
|
rs1294530764 CA406813423 |
142 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1355525725 CA406813424 |
142 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1355525725 COSM1612557 CA406813426 |
142 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9565972 rs777972236 |
144 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565971 rs201539045 |
145 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565970 rs753133537 |
146 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754944257 CA9565968 |
147 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1418856836 CA406813389 |
148 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 148 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9565966 CA9565965 rs758595605 |
150 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232783895 CA406813378 |
151 | L>M | No |
ClinGen gnomAD |
|
|
CA406813368 rs1326903233 |
152 | V>G | No |
ClinGen gnomAD |
|
|
CA9565964 rs753673748 |
154 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA406813355 rs1334999599 COSM1681200 |
155 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406813343 rs1226017378 |
157 | I>L | No |
ClinGen gnomAD |
|
|
rs1349382680 CA406813340 |
157 | I>N | No |
ClinGen gnomAD |
|
|
rs767086504 CA9565960 |
158 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA406813327 rs1329290449 |
159 | V>A | No |
ClinGen gnomAD |
|
|
rs759069301 CA9565959 |
160 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1371387498 CA406813291 |
164 | T>M | No |
ClinGen gnomAD |
|
|
rs545142998 CA9565957 |
166 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406813280 rs984387947 |
167 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs984387947 CA309455835 |
167 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9565955 rs773687492 |
168 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1285279832 CA406813266 |
169 | R>S | No |
ClinGen TOPMed |
|
|
CA406813260 rs1254458839 |
170 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA406813258 rs1254458839 |
170 | D>Y | No |
ClinGen gnomAD |
|
|
CA406813252 rs1347226302 |
171 | D>N | No |
ClinGen TOPMed |
|
|
CA406813250 rs1347226302 |
171 | D>Y | No |
ClinGen TOPMed |
|
|
CA406813241 rs1213295460 |
172 | R>H | No |
ClinGen gnomAD |
|
|
CA406813238 rs1169059228 |
173 | D>N | No |
ClinGen gnomAD |
|
|
CA406813230 rs950997183 |
174 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA406813229 rs950997183 |
174 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs950997183 CA309455816 |
174 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA309455800 rs769999721 |
175 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565953 rs769999721 |
175 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406813223 rs1486580205 |
175 | T>S | No |
ClinGen TOPMed |
|
|
CA9565949 rs747137703 |
176 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA406813220 rs747137703 |
176 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs755070365 CA406813221 CA9565950 |
176 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755070365 CA9565951 |
176 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406813218 rs750629552 |
177 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750629552 CA9565947 |
177 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565946 rs750629552 |
177 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565941 rs553009723 |
179 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9565943 rs767405906 |
179 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767405906 CA9565942 |
179 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs77059600 CA9565938 |
180 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406813202 rs1454979067 |
180 | A>S | No |
ClinGen gnomAD |
|
|
CA9565937 rs77059600 |
180 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777028770 CA9565934 |
181 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs777028770 CA9565935 |
181 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9565931 rs780165257 |
182 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1279480331 CA406813190 |
183 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA406813186 COSM1211410 rs1211591431 |
183 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406813184 rs757480933 |
184 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406813183 rs1396319495 |
184 | G>D | No |
ClinGen TOPMed |
|
|
CA406813185 rs757480933 |
184 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757480933 COSM567109 CA9565927 |
184 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406813181 rs1396319495 |
184 | G>V | No |
ClinGen TOPMed |
|
|
rs1014797689 CA309455627 |
185 | P>Q | No |
ClinGen gnomAD |
|
|
CA406813177 rs1014797689 |
185 | P>R | No |
ClinGen gnomAD |
|
|
CA9565897 rs144215009 |
187 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406812786 rs374800862 |
188 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374800862 CA9565895 |
188 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760980546 CA9565894 |
188 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940006170 CA406812778 |
189 | P>A | No |
ClinGen TOPMed |
|
|
CA9565892 rs1611775 |
189 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406812773 rs1611775 |
189 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_036776 CA9565891 rs1611775 |
189 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA309454288 rs940006170 |
189 | P>S | No |
ClinGen TOPMed |
|
|
rs1280445815 CA406812769 |
190 | L>M | No |
ClinGen TOPMed |
|
|
rs561867781 CA9565889 |
191 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374705018 CA406812747 |
191 | N>K | No |
ClinGen gnomAD |
|
|
rs1227932389 CA406812741 |
192 | G>S | No |
ClinGen TOPMed |
|
|
CA406812725 rs1600257245 |
194 | S>R | No |
ClinGen Ensembl |
|
|
rs1300194006 CA406812718 |
194 | S>T | No |
ClinGen gnomAD |
|
|
CA406812712 rs1310917647 |
195 | Q>* | No |
ClinGen TOPMed |
|
|
CA9565887 rs148044512 |
199 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9565886 rs371319644 |
200 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779961799 CA9565884 |
201 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9565883 rs368162010 |
202 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM297297 CA9565882 rs745803185 |
202 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA309454250 rs368162010 |
202 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467908512 CA406812615 |
204 | P>S | No |
ClinGen gnomAD |
|
|
rs1252581535 CA406812590 |
206 | N>D | No |
ClinGen gnomAD |
|
|
CA9565881 rs778297707 |
206 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA406812564 rs1489497069 |
207 | D>E | No |
ClinGen gnomAD |
|
|
rs756719638 CA9565880 |
208 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs202025350 CA9565879 |
208 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM999203 rs531366512 CA9565877 |
211 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9565875 rs199609119 |
212 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382331264 CA406812477 |
214 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9565874 rs759976666 |
214 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453886834 CA406812471 |
215 | L>M | No |
ClinGen gnomAD |
|
|
CA9565873 rs774858534 |
216 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9565872 rs201816455 |
218 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406812431 rs1300635682 |
219 | W>C | No |
ClinGen TOPMed |
|
|
rs773399974 CA9565870 |
223 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA406812388 rs1274085789 |
226 | V>A | No |
ClinGen gnomAD |
|
|
rs775481566 CA9565867 |
226 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs771840503 CA9565866 |
227 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745798209 CA9565865 COSM3835344 |
227 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs778870173 CA9565864 |
232 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304541920 CA406812345 |
233 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs748837026 CA9565862 |
235 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565861 rs777262213 |
235 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755824225 CA9565860 |
238 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9565858 rs143549029 |
241 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565857 rs143549029 |
241 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752033519 CA9565856 |
243 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1484006029 CA406812164 |
247 | F>V | No |
ClinGen TOPMed |
|
|
CA406812148 rs1183862855 |
248 | V>A | No |
ClinGen TOPMed |
|
|
rs773489803 CA9565853 |
248 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9565852 rs765392531 |
250 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9565851 rs762137243 |
251 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1185904019 CA406812066 |
255 | V>A | No |
ClinGen gnomAD |
|
|
CA406812064 rs1185904019 |
255 | V>G | No |
ClinGen gnomAD |
|
|
CA309454075 rs74619341 |
255 | V>L | No |
ClinGen gnomAD |
|
|
rs74619341 CA406812071 |
255 | V>M | No |
ClinGen gnomAD |
|
|
rs771793122 CA9565849 |
257 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773987116 CA9565848 |
258 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA406812040 rs1281699106 |
258 | G>C | No |
ClinGen gnomAD |
|
|
rs773987116 CA9565847 |
258 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250413933 CA406812031 |
259 | T>P | No |
ClinGen gnomAD |
|
|
CA406812028 rs1227775067 |
259 | T>S | No |
ClinGen gnomAD |
|
|
rs749212019 CA9565845 |
260 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4132249 CA9565843 rs201167999 |
262 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9565840 rs200336849 |
263 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200336849 CA9565839 |
263 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309454032 rs200336849 |
263 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140612328 CA9565841 |
263 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565838 rs759030159 |
265 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759030159 CA9565837 |
265 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565835 rs146804519 |
265 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9565836 rs146804519 |
265 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1600257031 CA406811955 |
266 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600257020 CA406811945 |
267 | V>G | No |
ClinGen Ensembl |
|
|
rs1162821611 CA406811949 |
267 | V>M | No |
ClinGen gnomAD |
|
|
rs1474951294 CA406811933 |
268 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309454002 rs371194034 |
271 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs574043392 CA9565833 |
275 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1465719059 COSM1395175 CA406811829 |
276 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406811821 rs1436421908 |
277 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9565831 rs202019889 |
280 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764482509 CA309454000 |
280 | I>V | No |
ClinGen Ensembl |
|
|
COSM1681199 rs1232978310 CA406811780 |
281 | R>* | pancreas Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA406811778 rs1319506687 |
281 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1477968029 CA406811770 |
282 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546430763 CA9565830 |
284 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9565829 rs537027580 |
284 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1201837904 CA406811730 |
286 | F>L | No |
ClinGen gnomAD |
|
|
CA9565828 rs143607148 |
287 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368469824 CA9565827 |
287 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368469824 CA309453985 |
287 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406811678 rs1329254170 |
290 | K>N | No |
ClinGen gnomAD |
|
|
CA9565825 rs780533015 |
291 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406811669 rs1369398798 |
291 | L>P | No |
ClinGen gnomAD |
|
|
rs200316299 CA406811654 |
293 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1211409 CA406811650 rs1324188517 |
293 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA309453979 rs200316299 |
293 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs780478352 CA9565821 |
296 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758767487 CA9565820 |
297 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779513467 CA9565818 |
302 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA309453946 rs968299269 |
302 | G>V | No |
ClinGen gnomAD |
|
|
CA406811530 rs1329575910 |
303 | Q>R | No |
ClinGen TOPMed |
|
|
COSM1255232 CA9565817 rs376824241 |
304 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9565814 rs370046903 |
306 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565815 rs764068829 COSM999201 |
306 | R>W | NS endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1349809871 CA406811505 |
307 | A>D | No |
ClinGen gnomAD |
|
|
rs141191302 CA309453922 |
307 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA9565812 rs766196010 |
310 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9565813 rs766196010 |
310 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565811 COSM999200 rs146540803 |
310 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA309453911 rs150070811 |
311 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA |
|
CA309453910 rs150070811 |
311 | E>V | No |
ClinGen 1000Genomes ESP |
|
| TCGA novel | 316 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772973766 CA9565810 |
316 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA309453904 rs550997343 |
316 | I>V | No |
ClinGen gnomAD |
|
|
rs765194915 CA9565809 |
317 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9565808 rs761648165 |
318 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs202179317 CA406811409 |
321 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309453877 rs774363202 |
321 | I>T | No |
ClinGen Ensembl |
|
|
CA9565804 rs746675915 |
322 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565803 rs775241762 |
324 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779415531 CA9565800 |
328 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565798 rs547270193 |
329 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9565797 rs547270193 COSM1740574 |
329 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9565795 rs139571533 |
330 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767780428 CA9565794 |
331 | Y>S | No |
ClinGen ExAC |
|
|
CA9565792 rs750280618 |
334 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs142738378 CA9565791 |
335 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406811264 rs1276878913 |
336 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9565790 rs761821227 |
336 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372895611 CA9565788 |
337 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565789 rs138686305 |
337 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421995154 CA406811240 |
339 | D>A | No |
ClinGen gnomAD |
|
|
CA406811245 COSM231412 rs1568411935 |
339 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1490644241 CA406811177 |
345 | I>V | No |
ClinGen TOPMed |
|
|
rs745502974 CA9565784 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367576655 CA9565785 |
346 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs549871279 CA9565782 |
349 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749834502 CA9565781 |
351 | W>G | No |
ClinGen ExAC gnomAD |
|
|
COSM999199 CA406811087 rs1263211065 |
352 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA406811080 rs1484625034 |
353 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 356 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778095377 CA9565780 |
356 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA406811033 rs1471939383 |
358 | T>A | No |
ClinGen TOPMed |
|
|
rs748270841 CA9565778 |
363 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs374770795 CA9565777 |
364 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765018989 CA9565774 |
367 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs143866728 CA9565775 |
367 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565773 rs756960238 |
369 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1312851851 CA406810905 |
370 | G>D | No |
ClinGen gnomAD |
|
|
rs370367266 CA309453628 |
373 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs370367266 CA406810879 |
373 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs753834131 CA9565772 |
374 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA406810868 rs1383775727 |
374 | V>M | No |
ClinGen TOPMed |
|
|
CA406810854 rs1361324105 |
375 | G>A | No |
ClinGen gnomAD |
|
|
rs752313141 CA9565769 |
380 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9565768 rs767077866 |
381 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773591235 CA9565763 |
383 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565764 rs773591235 |
383 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406810768 rs1600256749 |
385 | T>P | No |
ClinGen Ensembl |
|
|
CA406810741 rs1600256745 |
386 | I>F | No |
ClinGen Ensembl |
|
|
rs1484103918 CA406810716 |
387 | S>F | No |
ClinGen gnomAD |
|
|
CA406810690 rs1449838790 |
389 | P>L | No |
ClinGen gnomAD |
|
|
CA406810696 rs1203564820 |
389 | P>S | No |
ClinGen gnomAD |
|
|
CA9565759 rs781266465 |
392 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406810658 rs1220514641 |
393 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406810642 rs1332857524 |
393 | I>M | No |
ClinGen gnomAD |
|
|
CA406810659 rs1220514641 |
393 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 394 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 397 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406810590 rs1229337509 |
398 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371100804 CA9565756 |
403 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9565757 rs138061289 |
403 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309453510 rs969157340 |
405 | T>R | No |
ClinGen Ensembl |
|
|
rs533444990 CA9565755 |
406 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439232035 CA406810464 |
406 | E>D | No |
ClinGen TOPMed |
|
|
CA406810470 rs533444990 |
406 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559662958 CA9565753 |
407 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9565754 rs559662958 |
407 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541248038 COSM3404442 CA9565751 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs767165812 CA9565750 |
409 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406810433 rs1600256697 |
409 | E>Q | No |
ClinGen Ensembl |
|
|
CA406810409 rs1425415453 |
410 | A>D | No |
ClinGen gnomAD |
|
|
rs1164877887 CA406810422 |
410 | A>T | No |
ClinGen gnomAD |
|
|
CA406810395 rs1405741590 |
411 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1600256683 CA406810385 |
412 | M>V | No |
ClinGen Ensembl |
|
|
rs1393906684 CA406810309 |
415 | H>R | No |
ClinGen TOPMed |
|
|
rs762658825 CA9565746 |
418 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239018197 CA406810278 |
418 | M>L | No |
ClinGen gnomAD |
|
|
rs1017219 CA9565747 VAR_036777 |
418 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1264877023 CA406810257 |
419 | Q>E | No |
ClinGen gnomAD |
|
|
rs562010051 CA9565745 |
420 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 421 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239833531 CA406810204 |
422 | G>S | No |
ClinGen gnomAD |
|
|
CA406810163 rs1337997727 |
425 | E>K | No |
ClinGen TOPMed |
|
|
rs777084632 CA9565742 |
426 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565741 rs543909984 |
426 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309453372 rs986410711 |
430 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs986410711 CA406810069 |
430 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1438187104 CA406810071 |
430 | G>W | No |
ClinGen gnomAD |
|
|
CA9565738 rs772250720 |
435 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 436 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406809954 rs1600256624 |
437 | V>G | No |
ClinGen Ensembl |
|
|
rs746043888 CA9565737 |
437 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1452770450 CA406809919 |
440 | L>P | No |
ClinGen gnomAD |
|
|
CA406809912 rs1266974170 |
441 | P>S | No |
ClinGen gnomAD |
|
|
rs151047920 CA309453361 |
442 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752701716 CA9565733 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9565730 rs781325560 |
444 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9565729 rs754932345 |
446 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406809849 rs1288515625 |
447 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1288515625 CA406809851 |
447 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1330098654 CA406809833 |
448 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406809836 rs1330098654 |
448 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765895551 CA9565727 |
449 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9565726 rs750029780 |
451 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750029780 CA9565725 |
451 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297059413 CA406809795 |
453 | V>I | No |
ClinGen gnomAD |
|
|
rs889215599 CA309453298 |
455 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM999198 CA9565723 rs762119570 |
455 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762119570 CA309453302 |
455 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309453295 rs1043844175 |
456 | V>A | No |
ClinGen TOPMed |
No associated diseases with Q96RP8
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05037 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Bos taurus (Bovine) | PR |
| Q7T199 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Gallus gallus (Chicken) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q61423 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Mus musculus (Mouse) | PR |
| P16390 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Mus musculus (Mouse) | PR |
| P16388 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Mus musculus (Mouse) | PR |
| Q17ST2 | Kcna7 | Potassium voltage-gated channel subfamily A member 7 | Mus musculus (Mouse) | PR |
| P15385 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Rattus norvegicus (Rat) | PR |
| P15384 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Rattus norvegicus (Rat) | PR |
| P10499 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Rattus norvegicus (Rat) | PR |
| P63142 | Kcna2 | Potassium voltage-gated channel subfamily A member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPRCPPPCG | CCERLVLNVA | GLRFETRART | LGRFPDTLLG | DPARRGRFYD | DARREYFFDR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HRPSFDAVLY | YYQSGGRLRR | PAHVPLDVFL | EEVAFYGLGA | AALARLREDE | GCPVPPERPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRRAFARQLW | LLFEFPESSQ | AARVLAVVSV | LVILVSIVVF | CLETLPDFRD | DRDGTGLAAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AAAGPFPAPL | NGSSQMPGNP | PRLPFNDPFF | VVETLCICWF | SFELLVRLLV | CPSKAIFFKN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VMNLIDFVAI | LPYFVALGTE | LARQRGVGQQ | AMSLAILRVI | RLVRVFRIFK | LSRHSKGLQI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGQTLRASMR | ELGLLIFFLF | IGVVLFSSAV | YFAEVDRVDS | HFTSIPESFW | WAVVTMTTVG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YGDMAPVTVG | GKIVGSLCAI | AGVLTISLPV | PVIVSNFSYF | YHRETEGEEA | GMFSHVDMQP |
| 430 | 440 | 450 | |||
| CGPLEGKANG | GLVDGEVPEL | PPPLWAPPGK | HLVTEV |